LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002402)
Patient ID OVCAR-3
Phenotype other cancer
Mut. origin -
Tissue ovarian carcinoma cell li
Template DNA
tumor-genotype heterozygous
family history -
Reference Yaginuma et al, M Exp Cell Res. 1997
# Reported 1
Published published
Remarks ovarian cancer

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.160733A>G
cDNA change c.2110A>G   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 21_ex
RNA change -
Protein p.Met704Val
RBWiki -
expected consequence type -
DB-ID RB1_01374
originated_in -

1 entry in RB1

Path.
Allele Descending
Ascending
g-position Descending
Ascending
cDNA change Descending
Ascending
Type Descending
Ascending
Exon Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
RBWiki Descending
Ascending
expected consequence type Descending
Ascending
DB-ID Descending
Ascending
originated_in Descending
Ascending
?/? Unknown g.160733A>G c.2110A>G substitution 21_ex - p.Met704Val - - RB1_01374 -

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